These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 32846834)

  • 41. Novel mutation in HPRT1 causing a splicing error with multiple variations.
    Baba S; Saito T; Yamada Y; Takeshita E; Nomura N; Yamada K; Wakamatsu N; Sasaki M
    Nucleosides Nucleotides Nucleic Acids; 2017 Jan; 36(1):1-6. PubMed ID: 27754763
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Torres RJ; Prior C; Puig JG
    Metabolism; 2007 Sep; 56(9):1179-86. PubMed ID: 17697859
    [TBL] [Abstract][Full Text] [Related]  

  • 43. [Complete and partial deficiency of HPRT].
    Ogasawara N
    Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.
    Harris JC
    Curr Opin Psychiatry; 2018 Mar; 31(2):96-102. PubMed ID: 29227296
    [TBL] [Abstract][Full Text] [Related]  

  • 45. [Complete and partial deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
    Yamada Y
    Nihon Rinsho; 2003 Jan; 61 Suppl 1():288-93. PubMed ID: 12629733
    [No Abstract]   [Full Text] [Related]  

  • 46. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
    Yamada Y
    Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
    De Gregorio L; Jinnah HA; Harris JC; Nyhan WL; Schretlen DJ; Trombley LM; O'Neill JP
    Mol Genet Metab; 2005 May; 85(1):70-7. PubMed ID: 15862283
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation.
    Stevens SK; Parker BR
    Pediatr Radiol; 1989; 19(6-7):479-80. PubMed ID: 2671903
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene.
    Sharma S; Jiménez RT; Aneja S; Garcia MG; Sethi GR
    Indian J Pediatr; 2012 Nov; 79(11):1520-2. PubMed ID: 22183764
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Attenuated variants of Lesch-Nyhan disease.
    Jinnah HA; Ceballos-Picot I; Torres RJ; Visser JE; Schretlen DJ; Verdu A; Laróvere LE; Chen CJ; Cossu A; Wu CH; Sampat R; Chang SJ; de Kremer RD; Nyhan W; Harris JC; Reich SG; Puig JG;
    Brain; 2010 Mar; 133(Pt 3):671-89. PubMed ID: 20176575
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Normal HPRT coding region in complete and partial HPRT deficiency.
    García MG; Torres RJ; Prior C; Puig JG
    Mol Genet Metab; 2008 Jun; 94(2):167-72. PubMed ID: 18316217
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Cossu A; Micheli V; Jacomelli G; Carcassi A
    Clin Exp Rheumatol; 2002; 20(6):851-3. PubMed ID: 12508781
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.
    Torres RJ; Garcia MG; Puig JG
    Gene; 2012 Dec; 511(2):306-7. PubMed ID: 23046577
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
    Sculley DG; Dawson PA; Emmerson BT; Gordon RB
    Hum Genet; 1992 Nov; 90(3):195-207. PubMed ID: 1487231
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome.
    Kállay K; Liptai Z; Benyó G; Kassa C; Goda V; Sinkó J; Tóth A; Kriván G
    Metab Brain Dis; 2012 Jun; 27(2):193-6. PubMed ID: 22350962
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
    Ishida Y; Ishimaru A; Tauchi H; Yamaguchi A; Yokoyama M; Hiroi K; Wakamatsu N; Yamada Y
    Eur J Pediatr; 2008 Aug; 167(8):957-9. PubMed ID: 17891542
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.
    Hou JW
    Acta Paediatr; 2006 Nov; 95(11):1500-4. PubMed ID: 17062485
    [TBL] [Abstract][Full Text] [Related]  

  • 58. The spectrum of mutations causing HPRT deficiency: an update.
    Jinnah HA; Harris JC; Nyhan WL; O'Neill JP
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1153-60. PubMed ID: 15571220
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status.
    Mansfield ES; Blasband A; Kronick MN; Wrabetz L; Kaplan P; Rappaport E; Sartore M; Parrella T; Surrey S; Fortina P
    Mol Cell Probes; 1993 Aug; 7(4):311-24. PubMed ID: 8232348
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
    Seegmiller JE
    Adv Hum Genet; 1976; 6():75-163. PubMed ID: 779428
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.